-
2
-
-
75349092696
-
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
-
Barnerias C., Saudubray J.M., Touati G., De Lonlay P., Dulac O., Ponsot G., et al. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 2010, 52:e1-e9.
-
(2010)
Dev Med Child Neurol
, vol.52
-
-
Barnerias, C.1
Saudubray, J.M.2
Touati, G.3
De Lonlay, P.4
Dulac, O.5
Ponsot, G.6
-
3
-
-
0029888253
-
Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency
-
Fujii T., Garcia Alvarez M.B., Sheu K.F., Kranz-Eble P.J., De Vivo D.C. Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency. Pediatr Neurol 1996, 14:328-334.
-
(1996)
Pediatr Neurol
, vol.14
, pp. 328-334
-
-
Fujii, T.1
Garcia Alvarez, M.B.2
Sheu, K.F.3
Kranz-Eble, P.J.4
De Vivo, D.C.5
-
4
-
-
40849085575
-
Mutations of the E1 beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency
-
Okajima K., Korotchkina L.G., Prasad C., Rupar T., Phillips J.A., Ficicioglu C., et al. Mutations of the E1 beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Mol Genet Metab 2008, 93:371-380.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 371-380
-
-
Okajima, K.1
Korotchkina, L.G.2
Prasad, C.3
Rupar, T.4
Phillips, J.A.5
Ficicioglu, C.6
-
5
-
-
1342325393
-
Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components
-
Hiromasa Y., Fujisawa T., Aso Y., Roche T.E. Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. J Biol Chem 2004, 279:6921-6933.
-
(2004)
J Biol Chem
, vol.279
, pp. 6921-6933
-
-
Hiromasa, Y.1
Fujisawa, T.2
Aso, Y.3
Roche, T.E.4
-
6
-
-
0035224979
-
Distinct regulatory properties of pyruvate dehydrogenase kinase and phosphatase isoforms
-
Roche T.E., Baker J.C., Yan X., Hiromasa Y., Gong X., Peng T., et al. Distinct regulatory properties of pyruvate dehydrogenase kinase and phosphatase isoforms. Prog Nucleic Acid Res Mol Biol 2001, 70:33-75.
-
(2001)
Prog Nucleic Acid Res Mol Biol
, vol.70
, pp. 33-75
-
-
Roche, T.E.1
Baker, J.C.2
Yan, X.3
Hiromasa, Y.4
Gong, X.5
Peng, T.6
-
7
-
-
0028986811
-
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex
-
Chun K., MacKay N., Petrova-Benedict R., Federico A., Fois A., Cole D.E., et al. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet 1995, 56:558-569.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 558-569
-
-
Chun, K.1
MacKay, N.2
Petrova-Benedict, R.3
Federico, A.4
Fois, A.5
Cole, D.E.6
-
8
-
-
77953024441
-
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency
-
Quintana E., Gort L., Busquets C., Navarro-Sastre A., Lissens W., Moliner S., et al. Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. Clin Genet 2010, 77:474-482.
-
(2010)
Clin Genet
, vol.77
, pp. 474-482
-
-
Quintana, E.1
Gort, L.2
Busquets, C.3
Navarro-Sastre, A.4
Lissens, W.5
Moliner, S.6
-
9
-
-
0029785174
-
Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS TVDQS)
-
Tripatara A., Kerr D.S., Lusk M.M., Kolli M., Tan J., Patel M.S. Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS TVDQS). Hum Mutat 1996, 8:180-182.
-
(1996)
Hum Mutat
, vol.8
, pp. 180-182
-
-
Tripatara, A.1
Kerr, D.S.2
Lusk, M.M.3
Kolli, M.4
Tan, J.5
Patel, M.S.6
-
10
-
-
63249086803
-
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype
-
Cameron J.M., Maj M., Levandovskiy V., Barnett C.P., Blaser S., Mackay N., et al. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet 2009, 125:319-326.
-
(2009)
Hum Genet
, vol.125
, pp. 319-326
-
-
Cameron, J.M.1
Maj, M.2
Levandovskiy, V.3
Barnett, C.P.4
Blaser, S.5
Mackay, N.6
-
11
-
-
23044485346
-
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation
-
Maj M.C., MacKay N., Levandovskiy V., Addis J., Baumgartner E.R., Baumgartner M.R., et al. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab 2005, 90:4101-4107.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4101-4107
-
-
Maj, M.C.1
MacKay, N.2
Levandovskiy, V.3
Addis, J.4
Baumgartner, E.R.5
Baumgartner, M.R.6
-
12
-
-
0016724576
-
Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy
-
Robinson B.H., Sherwood W.G. Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy. Pediatr Res 1975, 9:935-939.
-
(1975)
Pediatr Res
, vol.9
, pp. 935-939
-
-
Robinson, B.H.1
Sherwood, W.G.2
-
13
-
-
0029808825
-
Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy
-
Briones P., Lopez M.J., De Meirleir L., Ribes A., Rodes M., Martinez-Costa C., et al. Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy. J Inherit Metab Dis 1996, 19:795-796.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 795-796
-
-
Briones, P.1
Lopez, M.J.2
De Meirleir, L.3
Ribes, A.4
Rodes, M.5
Martinez-Costa, C.6
-
14
-
-
0023200575
-
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex
-
Robinson B.H., MacMillan H., Petrova-Benedict R., Sherwood W.G. Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 1987, 111:525-533.
-
(1987)
J Pediatr
, vol.111
, pp. 525-533
-
-
Robinson, B.H.1
MacMillan, H.2
Petrova-Benedict, R.3
Sherwood, W.G.4
-
15
-
-
0034016956
-
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
-
Makino M., Horai S., Goto Y., Nonaka I. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications. J Hum Genet 2000, 45:69-75.
-
(2000)
J Hum Genet
, vol.45
, pp. 69-75
-
-
Makino, M.1
Horai, S.2
Goto, Y.3
Nonaka, I.4
-
16
-
-
43349098636
-
Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions
-
Lee Y.M., Kang H.C., Lee J.S., Kim S.H., Kim E.Y., Lee S.K., et al. Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions. Epilepsia 2008, 49:685-690.
-
(2008)
Epilepsia
, vol.49
, pp. 685-690
-
-
Lee, Y.M.1
Kang, H.C.2
Lee, J.S.3
Kim, S.H.4
Kim, E.Y.5
Lee, S.K.6
-
17
-
-
35948983015
-
Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism
-
Prasad A.N., Bunzeluk K., Prasad C., Chodirker B.N., Magnus K.G., Greenberg C.R. Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism. Congenit Anom (Kyoto) 2007, 47:125-135.
-
(2007)
Congenit Anom (Kyoto)
, vol.47
, pp. 125-135
-
-
Prasad, A.N.1
Bunzeluk, K.2
Prasad, C.3
Chodirker, B.N.4
Magnus, K.G.5
Greenberg, C.R.6
-
18
-
-
0028073917
-
Pyruvate dehydrogenase deficiency
-
Brown G.K., Otero L.J., LeGris M., Brown R.M. Pyruvate dehydrogenase deficiency. J Med Genet 1994, 31:875-879.
-
(1994)
J Med Genet
, vol.31
, pp. 875-879
-
-
Brown, G.K.1
Otero, L.J.2
LeGris, M.3
Brown, R.M.4
-
19
-
-
0035933049
-
Inborn errors of metabolism: a cause of abnormal brain development
-
Nissenkorn A., Michelson M., Ben-Zeev B., Lerman-Sagie T. Inborn errors of metabolism: a cause of abnormal brain development. Neurology 2001, 56:1265-1272.
-
(2001)
Neurology
, vol.56
, pp. 1265-1272
-
-
Nissenkorn, A.1
Michelson, M.2
Ben-Zeev, B.3
Lerman-Sagie, T.4
-
20
-
-
0033646624
-
Morphological correlates of mitochondrial dysfunction in children
-
Chow C.W., Thorburn D.R. Morphological correlates of mitochondrial dysfunction in children. Hum Reprod 2000, 15(Suppl. 2):68-78.
-
(2000)
Hum Reprod
, vol.15
, Issue.SUPPL. 2
, pp. 68-78
-
-
Chow, C.W.1
Thorburn, D.R.2
-
22
-
-
0035933047
-
Epileptic phenotypes associated with mitochondrial disorders
-
Canafoglia L., Franceschetti S., Antozzi C., Carrara F., Farina L., Granata T., et al. Epileptic phenotypes associated with mitochondrial disorders. Neurology 2001, 56:1340-1346.
-
(2001)
Neurology
, vol.56
, pp. 1340-1346
-
-
Canafoglia, L.1
Franceschetti, S.2
Antozzi, C.3
Carrara, F.4
Farina, L.5
Granata, T.6
-
23
-
-
78751648925
-
Mitochondrial dysfunction and oxidative stress: a contributing link to acquired epilepsy?
-
Waldbaum S., Patel M. Mitochondrial dysfunction and oxidative stress: a contributing link to acquired epilepsy?. J Bioenerg Biomembr 2010, 42:449-455.
-
(2010)
J Bioenerg Biomembr
, vol.42
, pp. 449-455
-
-
Waldbaum, S.1
Patel, M.2
-
24
-
-
78751645761
-
The potential role of mitochondrial dysfunction in seizure-associated cell death in the hippocampus and epileptogenesis
-
Chen S.D., Chang A.Y., Chuang Y.C. The potential role of mitochondrial dysfunction in seizure-associated cell death in the hippocampus and epileptogenesis. J Bioenerg Biomembr 2010, 42:461-465.
-
(2010)
J Bioenerg Biomembr
, vol.42
, pp. 461-465
-
-
Chen, S.D.1
Chang, A.Y.2
Chuang, Y.C.3
-
25
-
-
39849098260
-
Neurometabolism in human epilepsy
-
Pan J.W., Williamson A., Cavus I., Hetherington H.P., Zaveri H., Petroff O.A., et al. Neurometabolism in human epilepsy. Epilepsia 2008, 49(Suppl. 3):31-41.
-
(2008)
Epilepsia
, vol.49
, Issue.SUPPL. 3
, pp. 31-41
-
-
Pan, J.W.1
Williamson, A.2
Cavus, I.3
Hetherington, H.P.4
Zaveri, H.5
Petroff, O.A.6
-
26
-
-
0027051448
-
Regulatory role of astrocytes for neuronal biosynthesis and homeostasis of glutamate and GABA
-
Schousboe A., Westergaard N., Sonnewald U., Petersen S.B., Yu A.C., Hertz L. Regulatory role of astrocytes for neuronal biosynthesis and homeostasis of glutamate and GABA. Prog Brain Res 1992, 94:199-211.
-
(1992)
Prog Brain Res
, vol.94
, pp. 199-211
-
-
Schousboe, A.1
Westergaard, N.2
Sonnewald, U.3
Petersen, S.B.4
Yu, A.C.5
Hertz, L.6
-
27
-
-
41149085081
-
Close coupling between astrocytic and neuronal metabolisms to fulfill anaplerotic and energy needs in the rat brain
-
Serres S., Raffard G., Franconi J.M., Merle M. Close coupling between astrocytic and neuronal metabolisms to fulfill anaplerotic and energy needs in the rat brain. J Cereb Blood Flow Metab 2008, 28:712-724.
-
(2008)
J Cereb Blood Flow Metab
, vol.28
, pp. 712-724
-
-
Serres, S.1
Raffard, G.2
Franconi, J.M.3
Merle, M.4
-
28
-
-
0035109917
-
In vivo (13)C NMR measurement of neurotransmitter glutamate cycling, anaplerosis and TCA cycle flux in rat brain during [2-(13)C]glucose or [5-(13)C]glucose infusion
-
Sibson N.R., Mason G.F., Shen J., Cline G.W., Herskovits A.Z., Wall J.E., et al. In vivo (13)C NMR measurement of neurotransmitter glutamate cycling, anaplerosis and TCA cycle flux in rat brain during [2-(13)C]glucose or [5-(13)C]glucose infusion. J Neurochem 2001, 76:975-989.
-
(2001)
J Neurochem
, vol.76
, pp. 975-989
-
-
Sibson, N.R.1
Mason, G.F.2
Shen, J.3
Cline, G.W.4
Herskovits, A.Z.5
Wall, J.E.6
-
29
-
-
12144290495
-
Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity
-
Klivenyi P., Starkov A.A., Calingasan N.Y., Gardian G., Browne S.E., Yang L., et al. Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity. J Neurochem 2004, 88:1352-1360.
-
(2004)
J Neurochem
, vol.88
, pp. 1352-1360
-
-
Klivenyi, P.1
Starkov, A.A.2
Calingasan, N.Y.3
Gardian, G.4
Browne, S.E.5
Yang, L.6
-
30
-
-
12244289642
-
Pyruvate dehydrogenase complex: metabolic link to ischemic brain injury and target of oxidative stress
-
Martin E., Rosenthal R.E., Fiskum G. Pyruvate dehydrogenase complex: metabolic link to ischemic brain injury and target of oxidative stress. J Neurosci Res 2005, 79:240-247.
-
(2005)
J Neurosci Res
, vol.79
, pp. 240-247
-
-
Martin, E.1
Rosenthal, R.E.2
Fiskum, G.3
-
31
-
-
65449139544
-
Mitochondria, calcium and cell death: a deadly triad in neurodegeneration
-
Celsi F., Pizzo P., Brini M., Leo S., Fotino C., Pinton P., et al. Mitochondria, calcium and cell death: a deadly triad in neurodegeneration. Biochim Biophys Acta 2009, 1787:335-344.
-
(2009)
Biochim Biophys Acta
, vol.1787
, pp. 335-344
-
-
Celsi, F.1
Pizzo, P.2
Brini, M.3
Leo, S.4
Fotino, C.5
Pinton, P.6
-
32
-
-
0041534404
-
Ca(2+) signalling in mitochondria: mechanism and role in physiology and pathology
-
Brini M. Ca(2+) signalling in mitochondria: mechanism and role in physiology and pathology. Cell Calcium 2003, 34:399-405.
-
(2003)
Cell Calcium
, vol.34
, pp. 399-405
-
-
Brini, M.1
-
33
-
-
0032773120
-
A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
-
Brini M., Pinton P., King M.P., Davidson M., Schon E.A., Rizzuto R. A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency. Nat Med 1999, 5:951-954.
-
(1999)
Nat Med
, vol.5
, pp. 951-954
-
-
Brini, M.1
Pinton, P.2
King, M.P.3
Davidson, M.4
Schon, E.A.5
Rizzuto, R.6
-
34
-
-
0031456509
-
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations
-
Wexler I.D., Hemalatha S.G., McConnell J., Buist N.R., Dahl H.H., Berry S.A., et al. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology 1997, 49:1655-1661.
-
(1997)
Neurology
, vol.49
, pp. 1655-1661
-
-
Wexler, I.D.1
Hemalatha, S.G.2
McConnell, J.3
Buist, N.R.4
Dahl, H.H.5
Berry, S.A.6
-
35
-
-
0032741902
-
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency
-
Naito E., Ito M., Yokota I., Saijo T., Chen S., Maehara M., et al. Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency. J Neurol Sci 1999, 171:56-59.
-
(1999)
J Neurol Sci
, vol.171
, pp. 56-59
-
-
Naito, E.1
Ito, M.2
Yokota, I.3
Saijo, T.4
Chen, S.5
Maehara, M.6
-
36
-
-
40849131523
-
Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate
-
Stacpoole P.W., Gilbert L.R., Neiberger R.E., Carney P.R., Valenstein E., Theriaque D.W., et al. Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate. Pediatrics 2008, 121:e1223-e1228.
-
(2008)
Pediatrics
, vol.121
-
-
Stacpoole, P.W.1
Gilbert, L.R.2
Neiberger, R.E.3
Carney, P.R.4
Valenstein, E.5
Theriaque, D.W.6
-
37
-
-
33745142205
-
Females with PDHA1 gene mutations: a diagnostic challenge
-
Willemsen M., Rodenburg R.J., Teszas A., van den Heuvel L., Kosztolanyi G., Morava E. Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion 2006, 6:155-159.
-
(2006)
Mitochondrion
, vol.6
, pp. 155-159
-
-
Willemsen, M.1
Rodenburg, R.J.2
Teszas, A.3
van den Heuvel, L.4
Kosztolanyi, G.5
Morava, E.6
-
38
-
-
0035716925
-
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency
-
Naito E., Ito M., Yokota I., Saijo T., Ogawa Y., Shinahara K., et al. Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency. Neuropediatrics 2001, 32:295-298.
-
(2001)
Neuropediatrics
, vol.32
, pp. 295-298
-
-
Naito, E.1
Ito, M.2
Yokota, I.3
Saijo, T.4
Ogawa, Y.5
Shinahara, K.6
-
39
-
-
1842480429
-
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet
-
Taylor M.R., Hurley J.B., Van Epps H.A., Brockerhoff S.E. A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet. Proc Natl Acad Sci USA 2004, 101:4584-4589.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 4584-4589
-
-
Taylor, M.R.1
Hurley, J.B.2
Van Epps, H.A.3
Brockerhoff, S.E.4
-
40
-
-
0036765063
-
Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors
-
Owen Rt., Mandel R.J., Ammini C.V., Conlon T.J., Kerr D.S., Stacpoole P.W., et al. Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors. Mol Ther 2002, 6:394-399.
-
(2002)
Mol Ther
, vol.6
, pp. 394-399
-
-
Owen, R.1
Mandel, R.J.2
Ammini, C.V.3
Conlon, T.J.4
Kerr, D.S.5
Stacpoole, P.W.6
-
41
-
-
34648840669
-
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes
-
Kang H.C., Kwon J.W., Lee Y.M., Kim H.D., Lee H.J., Hahn S.H. Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes. Childs Nerv Syst 2007, 23:1301-1307.
-
(2007)
Childs Nerv Syst
, vol.23
, pp. 1301-1307
-
-
Kang, H.C.1
Kwon, J.W.2
Lee, Y.M.3
Kim, H.D.4
Lee, H.J.5
Hahn, S.H.6
-
42
-
-
0347091766
-
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms
-
Wada N., Matsuishi T., Nonaka M., Naito E., Yoshino M. Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms. Brain Dev 2004, 26:57-60.
-
(2004)
Brain Dev
, vol.26
, pp. 57-60
-
-
Wada, N.1
Matsuishi, T.2
Nonaka, M.3
Naito, E.4
Yoshino, M.5
|